Incidental Mutation 'R2160:Gcm1'
| ID |
235118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcm1
|
| Ensembl Gene |
ENSMUSG00000023333 |
| Gene Name |
glial cells missing homolog 1 |
| Synonyms |
glial cell deficient, Gcm 1, Gcm a, GCMa, glide, Gcm1-rs1 |
| MMRRC Submission |
040163-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
77959240-77972906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77968662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 121
(K121E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024104]
|
| AlphaFold |
P70348 |
| PDB Structure |
STRUCTURE OF THE GCM DOMAIN BOUND TO DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024104
AA Change: K121E
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: K121E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCM
|
30 |
167 |
4.2e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired branching of the chorioallantoic interface, absence of the placental labyrinth, lack of fusion of chorionic trophoblast cells, and lethality between embryonic days 5.5-10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
| Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,680 (GRCm39) |
E1218G |
possibly damaging |
Het |
| Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
| Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,217,256 (GRCm39) |
T267A |
probably benign |
Het |
| Jph3 |
G |
T |
8: 122,479,970 (GRCm39) |
R216L |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,392,138 (GRCm39) |
E242G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
| Nup58 |
A |
G |
14: 60,476,957 (GRCm39) |
V238A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
| Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
| Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
| Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
Het |
| Zfp976 |
C |
T |
7: 42,263,354 (GRCm39) |
S161N |
probably benign |
Het |
|
| Other mutations in Gcm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Gcm1
|
APN |
9 |
77,972,298 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02132:Gcm1
|
APN |
9 |
77,972,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02820:Gcm1
|
APN |
9 |
77,971,844 (GRCm39) |
missense |
probably benign |
|
|
IGL03074:Gcm1
|
APN |
9 |
77,972,057 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
PIT4280001:Gcm1
|
UTSW |
9 |
77,966,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Gcm1
|
UTSW |
9 |
77,971,923 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1271:Gcm1
|
UTSW |
9 |
77,966,859 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1421:Gcm1
|
UTSW |
9 |
77,966,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Gcm1
|
UTSW |
9 |
77,966,999 (GRCm39) |
nonsense |
probably null |
|
|
R1884:Gcm1
|
UTSW |
9 |
77,966,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Gcm1
|
UTSW |
9 |
77,972,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Gcm1
|
UTSW |
9 |
77,972,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3103:Gcm1
|
UTSW |
9 |
77,971,734 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3944:Gcm1
|
UTSW |
9 |
77,967,098 (GRCm39) |
nonsense |
probably null |
|
|
R5292:Gcm1
|
UTSW |
9 |
77,968,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Gcm1
|
UTSW |
9 |
77,972,249 (GRCm39) |
missense |
probably benign |
|
|
R6446:Gcm1
|
UTSW |
9 |
77,967,065 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6465:Gcm1
|
UTSW |
9 |
77,972,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7114:Gcm1
|
UTSW |
9 |
77,967,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Gcm1
|
UTSW |
9 |
77,966,925 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7398:Gcm1
|
UTSW |
9 |
77,971,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Gcm1
|
UTSW |
9 |
77,971,749 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8130:Gcm1
|
UTSW |
9 |
77,971,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTCAGAATCAGCCCTGTG -3'
(R):5'- GTGTAGCCCTGTACCCACAAAC -3'
Sequencing Primer
(F):5'- ACTTACATCCTGATTGTGGGC -3'
(R):5'- CCACTGATAAAATTCCTCCATAGAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation